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Structural eye disease

Gene: FBN1

Green List (high evidence)

FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 17 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Many cases with ectopia lentis, either as part of Marfan syndrome or isolated
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectopia lentis, familial; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Marfan lipodystrophy syndrome; 129600; 154700; 604308; 608328; 616914

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Many cases with ectopia lentis, either as part of Marfan syndrome or isolated
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectopia lentis, familial; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Marfan lipodystrophy syndrome; 129600; 154700; 604308; 608328; 616914

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Marfan syndrome, 154700
  • Weill-Marchesani syndrome 2, dominant, 608328
  • MASS syndrome, 604308
  • Marfan lipodystrophy syndrome, 616914
  • Ectopia lentis, familial, 129600
OMIM
134797
Clinvar variants
Variants in FBN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FBN1 was added gene: FBN1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 1301946, 8136837 Phenotypes for gene: FBN1 were set to Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Ectopia lentis, familial, 129600